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GGTAGGAGAGCTGGTCTTCCCAAAC[A/G]GTAGTGAGGCCAAGATCCTATGAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609702 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CEP76 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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CEP76 - centrosomal protein 76 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271989.1 | 1574 | Silent Mutation | ACC,ACT | T,T 472 | NP_001258918.1 | |
NM_024899.3 | 1574 | Silent Mutation | ACC,ACT | T,T 547 | NP_079175.2 | |
XM_005258149.4 | 1574 | Silent Mutation | ACC,ACT | T,T 547 | XP_005258206.1 | |
XM_017025981.1 | 1574 | Silent Mutation | ACC,ACT | T,T 547 | XP_016881470.1 | |
XM_017025982.1 | 1574 | Silent Mutation | ACC,ACT | T,T 526 | XP_016881471.1 | |
XM_017025983.1 | 1574 | Silent Mutation | ACC,ACT | T,T 504 | XP_016881472.1 | |
XM_017025984.1 | 1574 | Silent Mutation | ACC,ACT | T,T 369 | XP_016881473.1 | |
XM_017025985.1 | 1574 | Silent Mutation | ACC,ACT | T,T 369 | XP_016881474.1 | |
XM_017025986.1 | 1574 | Silent Mutation | ACC,ACT | T,T 369 | XP_016881475.1 | |
XM_017025987.1 | 1574 | Silent Mutation | ACC,ACT | T,T 369 | XP_016881476.1 |
PSMG2 - proteasome assembly chaperone 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020232.4 | 1574 | Intron | NP_064617.2 | |||
NM_147163.1 | 1574 | Intron | NP_671692.1 |